Disease: Bile acid synthesis defect, congenital, 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918343
rs121918343
Entrez Id: 6718
Gene Symbol: AKR1D1
AKR1D1
CUI: C1856127
Disease:
Bile acid synthesis defect, congenital, 2 		0.800 GeneticVariation UNIPROT Characterization of disease-related 5beta-reductase (AKR1D1) mutations reveals their potential to cause bile acid deficiency. 20522910 2010
dbSNP: rs121918343
rs121918343
Entrez Id: 6718
Gene Symbol: AKR1D1
AKR1D1
CUI: C1856127
Disease:
Bile acid synthesis defect, congenital, 2 		0.800 GeneticVariation UNIPROT SRD5B1 gene analysis needed for the accurate diagnosis of primary 3-oxo-Delta4-steroid 5beta-reductase deficiency. 19175828 2009
dbSNP: rs121918343
rs121918343
Entrez Id: 6718
Gene Symbol: AKR1D1
AKR1D1
CUI: C1856127
Disease:
Bile acid synthesis defect, congenital, 2 		0.800 GeneticVariation UNIPROT SRD5B1 (AKR1D1) gene analysis in delta(4)-3-oxosteroid 5beta-reductase deficiency: evidence for primary genetic defect. 15030995 2004
dbSNP: rs121918343
rs121918343
Entrez Id: 6718
Gene Symbol: AKR1D1
AKR1D1
CUI: C1856127
Disease:
Bile acid synthesis defect, congenital, 2 		0.800 GeneticVariation UNIPROT Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy. 12970144 2003
dbSNP: rs121918343
rs121918343
Entrez Id: 6718
Gene Symbol: AKR1D1
AKR1D1
CUI: C1856127
Disease:
Bile acid synthesis defect, congenital, 2 		T 0.800 CausalMutation CLINVAR